Johns Hopkins Cleft & Cranial Facial Center

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Glossary

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Term Definitions
 


A

Anesthesia
An agent that is used so a patient does not feel pain during a procedure. It causes loss of sensation, with or without the loss of consciousness.
Apert Syndrome
A condition in which many of the bones of the skull close prematurely, giving the head a distorted shape. The condition can be hereditary or occur spontaneously, without a family history.
Audiology
The study of hearing.
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C
Craniofacial
Of or relating to the cranium (skull) and the face.
Craniosynostosis
A condition in which the joints of the skull close too early, causing problems with normal brain growth. Premature closure of the sutures also causes the pressure inside of the head to increase and the skull or facial bones to change from a normal, symmetrical appearance.
Crouzon Syndrome
Crouzon Syndrome is a genetic birth defect that causes abnormal fusion between bones in the skull and face. Normally, as an infant’s brain grows, open sutures (immovable joints) between the bones allow the skull to develop normally. When sutures fuse too early, the skull grows toward the remaining open sutures. With Crouzon Syndrome, the bones in the skull and face fuse too early. This creates abnormalities in the head, face, and teeth.
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D
Developmental Pediatrics
Diagnosing, evaluating and treating children who have learning, behavioral, and physical challenges.
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E
Epidemieology
The study of diseases in a population.
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G
Genetics
The study of heredity and how traits are passed on from generation to generation.
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H
Hemifacial Microsomia
A developmental syndrome in which one side of the face is underdeveloped, usually including the bony jaws and overlying soft tissues.
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M
Moebius Syndrome
With this rare disorder the person is unable to smile, frown, or blink due to facial paralysis.
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N
Neurology
The medical specialty that focuses on the body's nervous system and its disorders.
Neuroradiology
The medical specialty that concentrates on the diagnostic and therapeutic use of radiation for the body's nervous system.
Neurosurgery
Surgery on the body's nervous system which includes the brain.
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O
Ophthalmology
The medical specialty that focuses on the treatment of diseases and disorders of the eye.
Orthodontics
The dental specialty that focuses on the development, prevention, and correction of irregularities of the teeth, bite, and jaw.
Otolaryngology
The medical specialty focusing on the diagnosis and treatment of diseases of the ear, throat, and upper respiratory tract. Also known as Ear, Nose and Throat (ENT).
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P
Pierre-Robin Sequence
With this condition, the jaw is much smaller and there is a cleft on the back of the soft palate. The cleft is typically rounded, sometimes called "U-shaped." During early infancy, this condition can cause trouble with breathing for the baby. Because the tongue is positioned in the back of the mouth, it may block the airway and cause respiratory distress. If the condition is severe, a tracheostomy may be required to help the baby have a stable airway for breathing.
Plastic Surgery
Surgery that helps improve physical appearance and functionality.
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S
Saethre-Chotzen Syndrome
This syndrome is usually characterized by premature fusion in the skull and face, including a flat forehead. The nose is straight and pointed. The palate may be arched, or rarely, cleft. Other characteristics can include: low frontal hairline, drooping eyelids, eyes spaced too far apart, defects of the vertebral column, fingers and/or toes that are shorter, fusion of fingers and/or toes, and mild external ear malformations. With this syndrome, facial appearance tends to improve during childhood and individuals usually lead a full life when there are no other complications.
Speech/Language Pathology
The study of human communication disorders including, speech, language, and the ability to swallow.

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T
Treacher-Collins Syndrome
A hereditary syndrome that causes facial defects. It is usually characterized by abnormal external ears, hearing loss, a very small jaw, large mouth, defect in the lower eyelid, scalp hair extending onto the cheeks, and a cleft palate.

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